RESUMO
@#We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant caused a severe recessive form of metatropic dysplasia.
RESUMO
BACKGROUND. A tuberculin-positive child with radiological evidence of a parenchymal lung lesion is likely to be treated for tuberculosis by a physician. However, non-tuberculous microbial infections may also cause parenchymal lung lesions. We tried to distinguish tuberculous from non-tuberculous lung lesions by administering a course of antibiotics. METHODS. Three hundred and five tuberculin-positive children with parenchymal lung lesions due to pneumonia, bronchiectasis (cylindrical and reversible) and minor fissure opacification were studied at the Tuberculosis Clinic, Institute of Child Health, Madras. Those with more serious forms of tuberculosis like miliary, cavitary and segmental lesions and with grade III and IV undernutrition were excluded. Three weeks of oral antibiotic therapy, with erythromycin (30 mg/kg/day) and chloramphenicol (50 mg/kg/day) for the first two weeks followed by co-trimoxazole (trimethoprim 6 mg/kg/day and sulphamethoxazole 25 mg/kg/day) for the third week, was given. Chest X-rays were taken before and after antibiotic therapy. RESULTS. Sixty per cent of the children with pneumonia, 57% with bronchiectasis and 62% with minor fissure opacification showed complete radiological clearance. CONCLUSION. In tuberculin-positive children with parenchymal lung lesions radiological clearance was seen in 60% after three weeks of antibiotic therapy indicating that the parenchymal lung lesions were caused by non-tuberculous organisms. Hence a course of antibiotic therapy in these children may have diagnostic value as well as considerable financial, social and therapeutic implications.